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Ciccarone Center Research
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- Meet the Authors
Associations between NOS1AP single nucleotide polymorphisms (SNPs) and QT interval duration in four racial/ethnic grops in the Multi-Ethnic Study of Atherosclerosis (MESA).
QT is a risk factor for sudden cardiac death. This study used the Multi-Ethnic Study of Atherosclerosis to examine association of QT with NOS1AP variants in an ethnically diverse cohort.
Impact of ancestry and common genetic variants on QT interval in African Americans.
This study tested the hypotheses that African ancestry and common genetic variants are associated with prolonged duration of cardiac repolarization, a central pathophysiological determinant of arrhythmia. However, no difference in duration of cardiac repolarization with global genetic indices of African-American ancestry was noted.
Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.
Meta-analyses of European populations has successfully identified genetic variants in over 100 loci associated with lipid levels. This study seeks to expand our knowledge in other ethnicities, which remains limited.
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
This large meta-analysis of lipid phenotypes with the use of a dense gene-centric approach identified multiple single nucleotide polymorphisms not previously described in established lipid genes and several previously unknown loci, suggesting that a focused genotyping approach can further increase the understanding of heritability of plasma lipids.
Response to catecholamine stimulation of polymorphisms of the beta-1 and beta-2 adrenergic receptors.
This study concludes that beta receptor gene variants significantly influence inotropic and chronotropic responses to beta-agonist exposure in patients on beta blocker therapy.
Association of SRB1 variants with subclinical atherosclerosis and incident cardiovascular disease: The Multi-Ethnic Study of Atherosclerosis.
We previously reported a statistically significant association of SCARB1 intronic single nucleotide polymorphism (SNP) rs10846744 with common carotid intimal-medial artery thickness in each of the 4 Multi-Ethnic Study of Atherosclerosis racial/ethnic groups (white, Chinese, black, and Hispanic). The SCARB1 SNP, rs10846744, exerts a major effect on subclinical atherosclerosis and incident cardiovascular disease in humans.
Common genetic variation in the 3’-BCL11B gene desert is associated with carotid-femoral pulse wave velocity and excess cardiovascular disease risk: the AortaGen Consortium.
Carotid-femoral pulse wave velocity (CFPWV) is a heritable measure of aortic stiffness that is strongly associated with increased risk for major cardiovascular disease events. Common genetic variation in a locus in the BCL11B gene desert that is thought to harbor 1 or more gene enhancers is associated with higher CFPWV and increased risk for cardiovascular disease. Elucidation of the role this novel locus plays in aortic stiffness may facilitate development of therapeutic interventions that limit aortic stiffening and related cardiovascular disease events.
Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction.
Coronary artery calcification (CAC) detected by computed tomography is a noninvasive measure of coronary atherosclerosis, which underlies most cases of myocardial infarction (MI). We sought to identify common genetic variants associated with CAC and further investigate their associations with MI. SNPs in the 9p21 and PHACTR1 gene loci were strongly associated with CAC and MI, and there are suggestive associations with both CAC and MI of SNPs in additional loci. Multiple genetic loci are associated with development of both underlying coronary atherosclerosis and clinical events.
Heat acclimation and exercise training interact when combined in an overriding and trade-off manner: physiologic-genomic linkage.
Combined heat acclimation (AC) and exercise training (EX) enhance exercise performance in the heat while meeting thermoregulatory demands. We suggest that concerted adjustments induced by AC and EX lead to enhanced metabolic and mechanical performance of the EXAC heart.